title: Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
authors.affiliation: Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.
authors.forename: C
authors.initials: C
authors.lastname: Black
authors.forename: A P
authors.initials: AP
authors.lastname: Withers
authors.forename: J R
authors.initials: JR
authors.lastname: Gray
authors.forename: A B
authors.initials: AB
authors.lastname: Bridges
authors.forename: A
authors.initials: A
authors.lastname: Craig
authors.forename: D U
authors.initials: DU
authors.lastname: Baty
authors.forename: M
authors.initials: M
authors.lastname: Boxer
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001120:Arginine; D001483:Base Sequence; D003545:Cysteine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D054392:Adipokines
chemical_list: D001120:Arginine; D003545:Cysteine; D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines